MCID: CHR359
MIFTS: 23

Chronic Infections, Due to Mbl Deficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Aliases & Descriptions for Chronic Infections, Due to Mbl Deficiency:

Name: Chronic Infections, Due to Mbl Deficiency 50 12
Mannose-Binding Protein Deficiency 50 23 24 25 66
Mannose-Binding Lectin Deficiency 23 24
Mbl2 Deficiency 23 24
 
Mbp Deficiency 23 24
Susceptibility to Infection in Immunocompromised Patient 52
Mannose-Binding Lectin Protein Deficiency 24
Mbl Deficiency 24

Classifications:



External Ids:

OMIM50 614372
Orphanet52 ORPHA449306

Summaries for Chronic Infections, Due to Mbl Deficiency

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Genetics Home Reference:24 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.

MalaCards based summary: Chronic Infections, Due to Mbl Deficiency, also known as mannose-binding protein deficiency, is related to mannose-binding lectin protein deficiency and cystic fibrosis. An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (Mannose Binding Lectin 2). Affiliated tissues include liver.

OMIM:50 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of... (614372) more...

Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Diseases related to Chronic Infections, Due to Mbl Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1mannose-binding lectin protein deficiency11.6
2cystic fibrosis10.1
3systemic lupus erythematosus9.9
4malaria9.9
5hepatitis9.9
6hepatitis b9.9
7tuberculosis9.9
8lupus erythematosus9.9
9wallerian degeneration9.8
10meningococcemia9.8
11tooth agenesis, selective, 59.5EFEMP2, MBL2

Graphical network of diseases related to Chronic Infections, Due to Mbl Deficiency:



Diseases related to chronic infections, due to mbl deficiency

Symptoms for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Genetic tests related to Chronic Infections, Due to Mbl Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency25 23 MBL2

Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

34
Liver

Animal Models for Chronic Infections, Due to Mbl Deficiency or affiliated genes

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Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenicrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenicrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenicrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Cellular components related to Chronic Infections, Due to Mbl Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055769.1EFEMP2, MBL2

Molecular functions related to Chronic Infections, Due to Mbl Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.1EFEMP2, MBL2

Sources for Chronic Infections, Due to Mbl Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet